A new study compares the copy number variants (CNVs) in 29,085 children with developmental delay to those in 19,584 healthy controls, providing a valuable compilation of such data. The phenotypic variability and wide range of penetrance for these variants present societal challenges regarding how these findings might be incorporated into newborn screening, early intervention and, perhaps, carrier testing and prenatal diagnosis.
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A.L.B. is a member of the Department of Molecular and Human Genetics at Baylor College of Medicine. This department offers extensive genetic laboratory testing and derives revenue from this activity.
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Broad categorization of CNVs (PDF 50 kb)
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Beaudet, A. Reaching a CNV milestone. Nat Genet 46, 1046–1048 (2014). https://doi.org/10.1038/ng.3106
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DOI: https://doi.org/10.1038/ng.3106
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